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Defects of the Respiratory Chain

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Abstract

Respiratory chain deficiencies have long been regarded as neuromuscular diseases only. However, oxidative phosphorylation (i.e. ATP synthesis by the respiratory chain) is not restricted to the neuromuscular system but proceeds in all cells that contain mitochondria (Fig. 15.1). Most non-neuromuscular organs and tissues are, therefore, also dependent upon mitochondrial energy supply. Due to the twofold genetic origin of respiratory enzymes [nuclear DNA and mitochondrial (mtDNA)], a respiratory chain deficiency can theoretically give rise to any symptom in any organ or tissue at any age and with any mode of inheritance.

The diagnosis of a respiratory chain deficiency is difficult to consider initially when only one abnormal symptom is present. In contrast, this diagnosis is easier to consider when two or more seemingly unrelated symptoms are observed. The treatment, mainly dietetic, does not markedly influence the usually unfavorable course of the disease.

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Munnich, A. (2006). Defects of the Respiratory Chain. In: Fernandes, J., Saudubray, JM., van den Berghe, G., Walter, J.H. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg . https://doi.org/10.1007/978-3-540-28785-8_15

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  • DOI: https://doi.org/10.1007/978-3-540-28785-8_15

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